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Published December 3, 2024 | Version v2.5.0
Software Open

epi2me-labs/wf-human-variation: v2.5.0

Authors/Creators

  • 1. @nanoporetech
  • 2. Oxford Nanopore Technologies
  • 3. @Birkbeck
  • 4. @LooseLab

Description

Changed

  • Reconciled workflow with wf-template v5.3.2
  • Update Spectre to v0.3.2, which includes support for calling CNVs in hg19 data.
  • ClinVar version in SnpEff container updated to version 20241103.
  • Hidden additional options in MinKNOW for a simplified user experience.
  • Improved performance of readStats process by updating to bamstats 0.19.1.

Added

  • --spectre_args may be used to provide custom arguments to the Spectre process.

Fixed

  • Collections of sorted XAM files eligible for merge will no longer be needlessly re-sorted before merge.
  • Invalid method invocation when using QDNAseq with IGV output enabled.

Files

epi2me-labs/wf-human-variation-v2.5.0.zip

Files (2.2 MB)

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md5:b559c2a0d1cad928e22504e196ecfde5
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Additional details

Related works

Is supplement to
Software: https://github.com/epi2me-labs/wf-human-variation/tree/v2.5.0 (URL)

Software

Repository URL
https://github.com/epi2me-labs/wf-human-variation